Linked Data
ClinVar Variation Id:
2502918
ClinVar RCV Id:
RCV003229587
dbSNP Id:
rs2144169578
gnomAD v4:
18-31386726-GCAAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31386729_31386732del , CM000680.2:g.31386729_31386732del | GRCh38 |
| NC_000018.9:g.28966692_28966695del , CM000680.1:g.28966692_28966695del | GRCh37 |
| NC_000018.8:g.27220690_27220693del | NCBI36 |
| NG_013040.1:g.14953_14956del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308128.9:c.126_129del (DSG4) MANE Select | ENSP00000311859.4:p.Thr43SerfsTer? | |
| ENST00000308128.8:c.126_129del (DSG4) | ENSP00000311859.4:p.Thr43SerfsTer? | |
| ENST00000359747.4:c.126_129del (DSG4) | ENSP00000352785.4:p.Thr43SerfsTer? | |
| NM_001134453.1:c.126_129del (DSG4) | NP_001127925.1:p.Thr43SerfsTer? | |
| NM_177986.3:c.126_129del (DSG4) | NP_817123.1:p.Thr43SerfsTer? | |
| NR_110788.1:n.157-32277_157-32274del (DSG1-AS1) | ||
| NM_001134453.2:c.126_129del (DSG4) | NP_001127925.1:p.Thr43SerfsTer? | |
| NM_177986.4:c.126_129del (DSG4) | NP_817123.1:p.Thr43SerfsTer? | |
| NM_177986.5:c.126_129del (DSG4) MANE Select | NP_817123.1:p.Thr43SerfsTer? | |
| NM_001134453.3:c.126_129del (DSG4) | NP_001127925.1:p.Thr43SerfsTer? |